X-linked agammaglobulinemia presenting with secondary hemophagocytic syndrome: a case report.
作者： Can Ozturk , Sumer Sutcuoglu , Berna Atabay , Afig Berdeli
DOI: 10.1155/2013/742795
关键词: Pathogenesis 、 Bruton's tyrosine kinase 、 Immunology 、 X-linked agammaglobulinemia 、 Recurrent bacterial infections 、 Recurrent infections 、 Case presentation 、 Pediatrics 、 Gene mutation 、 Medicine
摘要: Introduction. Coincidence of X-linked agammaglobulinemia (XLA) and secondary hemophagocytic syndrome (sHS) is atypical. Both diseases are rare pathogenesis the latter one not clearly known. Case Presentation. A 5-year-old boy was diagnosed both with XLA sHS. However, in his history, he did have severe recurrent infections. Bruton tyrosine kinase (BTK) gene mutation present (c.1581_1584delTTTG). To best authors' knowledge, coincidence sHS had been reported literature before. Conclusion. Patients extremely vulnerable to bacterial The diagnosis at any time life an interesting challenging situation without history
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